基因表达差异显示实验

An on-chip whole-cell bioassay has been carried out using Escherichia coli tester strains for genotoxicity. In this assay format, the mutagen-responsive bioluminescence (BL) strains are immobilized in a chip assembly in which a silicon chip is placed between two poly(dimethylsilox ...

The advent of flow cytometry has considerably changed the ways in which medical testing is conducted. However, the cost of flow cytometers, their large size, and their maintenance needs make them scarce in resource-poor settings and available almost only in clinical pathology laborator ...

Cancer affects more people than any other disease. About one-third of the world’s population is likely to get this diagnosis during their lifetime. Currently, the diagnostic methods for cancer detection are based on visual inspection. The lack of high analytical and clinical specificity a ...

Heritability is a measure of familial resemblance. Estimating the heritability of a trait represents one of the first steps in the gene mapping process. This chapter describes how to estimate heritability for quantitative traits from nuclear and pedigree data using the ASSOC program in the ...

Data used to study human genetics are often not obtained by simple random sampling, which is assumed by many statistical methods, especially those that are based on likelihood for making inferences. There is a well-developed theory to correct likelihoods based on sibship data whether or not the ...

Segregation analysis is a basic tool in human genetics. It is a statistical method to determine if a trait, continuous or binary, has a transmission pattern in pedigrees that is consistent with Mendelian segregation. Major locus segregation is combined together with multifactorial/po ...

Linkage analysis is a family-based method of analysis to examine whether any typed genetic markers co-segregate with a given trait, in this case a quantitative trait. If linkage exists, this is taken as evidence in support of a genetic basis for the trait. Historically, linkage analysis was perfo ...

This chapter describes the main issues that genetic epidemiologists usually consider in the design of linkage and association studies. For linkage, we briefly consider the situation of rare, highly penetrant alleles showing a disease pattern consistent with Mendelian inheritan ...

Linkage analysis is a statistical genetics method to localize disease and trait genes to specific chromosome regions. The analysis requires pedigrees with members who vary among each other in the trait of interest and who have been genotyped with known genetic markers. Linkage analysis te ...

Genetic linkage analysis aims to detect chromosomal regions containing genes that influence risk of specific inherited diseases. The presence of linkage is indicated when a disease or trait cosegregates through the families with genetic markers at a particular region of the genome. Two ...

Model-free methods of linkage analysis for quantitative traits are a class of easily implemented, computationally efficient, and statistically robust approaches to searching for linkage to a quantitative trait. By “model-free” we refer to methods of linkage analysis that do not fully ...

Family-based designs have been commonly used in association studies. Different family structures such as extended pedigrees and nuclear families, including parent–offspring triads and families with multiple affected siblings (multiplex families), can be ascertained for f ...

Methods for single marker association analysis are presented for binary and quantitative traits. For a binary trait, we focus on the analysis of retrospective case–control data using Pearson’s chi-squared test, the trend test, and a robust test. For a continuous trait, typical methods are ba ...

Common terms used in genetics with multiple meanings are explained and the terminology used in subsequent chapters is defined. Statistical Human Genetics has existed as a discipline for over a century, and during that time the meanings of many of the terms used have evolved, largely driven by mol ...

Family-based association analysis unconditional on parental genotypes models the effects of observed genotypes. This approach has been shown to have greater power than conditional methods. In this chapter, I review two popular association analysis methods accounting for famil ...

Gene therapy, with the promise of symptomatic relief and curative potential, is being considered for a treatment of a wide variety of genetic and acquired diseases, with over 100 protocols approved by the National Institutes of Health since 1989. Skeletal muscle is an especially attractive t ...

A recombinant bifunctional fusion protein, consisting of a recombinant antibody and a DNA-binding protein, can be used as a nonviral gene delivery vector (Fig. 1). In this lab, such a fusion protein, composed of a human antibody Fab(105) moiety against the envelope glycoprotein of HIV-1, gp120, and a ...

Gene therapy necessitates the controlled expression of the transferred gene. The expression of the most genes is regulated at the level of transcription initiation. Research in the past two decades has provided a wealth of information about the mechanisms of transcriptional control in h ...

The ability to target and manipulate specific mammalian genes has been a long sought goal in biotechnology and biomedicine. The realization of this goal has only recently become feasible, with advances in genetic engineering. Through the use of gene targeting strategies, it is possible to re ...

The authors describe the preparation and use of a unique class of reactive oligodeoxynucleotides (ODNs) that can sequence, specifically bind to, and alkylate complex genomic DNA under physiological conditions. The alkylating event, which is detected using a quantitative version of ...